Familial Interstitial Lung Disease in Two Young Korean Sisters
Journal of Korean Medical Science
;
: 1066-1069, 2005.
Artículo
en Inglés
| WPRIM
| ID: wpr-63466
ABSTRACT
Most of the interstitial lung diseases are rare, chronic, progressive and fatal disorders, especially in familial form. The etiology of the majority of interstitial lung disease is still unknown. Host susceptibility, genetic and environmental factors may influence clinical expression of each disease. With familial interstitial lung diseases, mutations of surfactant protein B and surfactant protein C or other additional genetic mechanisms (e.g. mutation of the gene for ATP-binding cassette transporter A3) could be associated. We found a 21 month-old girl with respiratory symptoms, abnormal radiographic findings and abnormal open lung biopsy findings compatible with nonspecific interstitial pneumonitis that is similar to those of her older sister died from this disease. We performed genetic studies of the patient and her parents, but we could not find any mutation in our case. High-dose intravenous methylprednisolone and oral hydroxychloroquine were administered and she is still alive without progression during 21 months of follow-up.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Metilprednisolona
/
Tomografía Computarizada por Rayos X
/
Enfermedades Pulmonares Intersticiales
/
Hermanos
/
Hidroxicloroquina
/
Corea (Geográfico)
Límite:
Child, preschool
/
Femenino
/
Humanos
/
Lactante
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2005
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS